Primary T-cell immunodeficiencies:
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Philadelphia [u.a.]
Saunders
2000
|
| Series: | Immunology and allergy clinics of North America
20,1 |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XIV, 243 S. Ill., graph. Darst. |
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| adam_text | PRIMARY T CELL IMMUNODEFICIENCIES
CONTENTS
Preface xv
Chaim M. Roifman
Cytokine and CD3 Receptor Deficiencies
CD3 Immunodeficiencies 1
David A. Zapata, Alberto Pacheco Castro, Pilar S. Torres,
Ruth Millan, and Jose R. Regueiro
Human and murine CD3 deficiencies provide insight into the
essential and redundant roles of CD3 proteins in T cell develop¬
ment and immature T cell function. Mature T cell lines derived
from a patient with CD37 deficiency suggest that CD37 partici¬
pates in the induction of interleukin 2 (IL 2) and that the T cell
receptor (TCR) CD3 complex is biochemically different in T
helper and Tc cells when CD37 is lacking.
Severe Combined Immunodeficiency Caused by Defects
in Common Cytokine Receptor 7C Signaling Pathways 19
James P. Di Santo
This article summarizes the clinical considerations for TNKB*
severe combined immunodeficiency (SCID) and its atypical vari¬
ants caused by defects in the common cytokine receptor yc signal¬
ing pathway. The role of the 7t. cytokine network in normal
lymphopoiesis and in the pathophysiology of these diverse hu¬
man SCID syndromes is reviewed. An analysis of yc mutations in
typical and atypical SCID syndromes also is presented.
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA
VOLUME 20 • NUMBER 1 • FEBRUARY 2000 ix
Human Interleukin 2 Receptor a Deficiency 39
Chaim M. Roifman and Harjit K. Dadi
Profound cellular immunodeficiency occurs because of mutations
in proteins involved in the differentiation and function of mature
lymphoid cells. This article describes a novel human immune
aberration arising from a truncation mutation of the IL 2 receptor
a (IL 2Ra) chain (CD25), a subunit of the tripartite high affinity
receptor for IL 2. Decreased numbers of peripheral T cells dis¬
playing abnormal proliferation but normal B cell development
characterize this immunodeficiency. Extensive lymphocytic infil¬
tration of tissues, including lung, liver, gut, and bone, is observed,
accompanied by tissue atrophy and inflammation. Although ma¬
ture T cells are present, the absence of CD25 does affect the
differentiation of thymocytes. While displaying normal develop¬
ment of CD2, CD3, CD4, and CD8 expression, CD25 deficient
cortical thymocytes do not express CD1; they fail to down regu¬
late levels of bcl 2, and, subsequently, apoptosis in the thymus is
reduced markedly.
Interleukin 7 Receptor a. Chain dependent Signaling Is
Required for T cell Development: Basis for TB+NK+
Severe Combined Immunodeficiencies in Humans 51
Anne Puel and Warren J. Leonard
X linked SCID (XSCID) is characterized by profoundly dimin¬
ished T and natural killer (NK) cells. XSCID is caused by muta¬
tions in the common cytokine receptor 7 chain, yo which is a
component of the receptors for IL 2, IL 4, IL 7, IL 9, and IL 15. A
similar clinical and immunologic spectrum results from mutations
in JAf3, which associates with 7C. This article reviews these find¬
ings, and summarizes more recent evidence that mutations in
IL 7Ra cause a form of SCID in which T cell numbers diminished
profoundly but NK cells were normal. These findings not only
provide the first elucidation of a basis for T B+NK+ SCID but
also suggest that defective IL 7Ra dependent signaling accounts
for the T cell defect in XSCID and JAK3 deficiency. Other implica¬
tions of these findings also are discussed.
Diagnosis and Management of Inheritable Disorders of
Interferon y mediated Immunity 65
Capucine Picard, Olivier Baud, Claire Fieschi, and
Jean Laurent Casanova
Selective susceptibility to weakly pathogenic mycobacteria, such
as bacillus Calmette Guerin (BCG) vaccine and environmental
nontuberculous mycobacteria (NTM), has long been suspected to
be a Mendelian disorder, but its molecular basis remained elusive.
Recently, mutations in the interferon 7 (IFN 7) receptor ligand
binding chain (IFN 7RI), IFN y receptor signaling chain
X CONTENTS
(IFN 7R2), IL 12 p40 subunit, and IL 12Rpi chain genes have
i been identified in several patients with severe BCG or NTM
infection. Dominant or recessive alleles causing complete or par¬
tial cellular defects have been found to define seven different
inheritable disorders. Although genetically distinct, these condi¬
tions are immunologically related, and highlight the essential role
of IFN 7 mediated immunity in the control of mycobacteria in
humans. The genetic and immunologic heterogeneity of this syn¬
drome makes accurate diagnosis challenging but vital, and deci¬
sions regarding the most appropriate treatment are best made
based on an accurate molecular diagnosis.
Defects in Intracellular Signaling Molecules
CD8 Lymphocytopenia Caused by ZAP 70 Deficiency 77
Nigel Sharfe, Enrico Arpaia, and Chaim M. Roifman
The discovery of decreased ZAP 70 expression in a subset of
severely immunodeficient patients first revealed the importance
of ZAP 70 in T lymphocyte maturation and function. Patients
with ZAP 70 kinase deficiency demonstrate a selective defect in
CD8 T cell differentiation, possessing normal numbers of CD4 T
cells and B lymphocytes. Subsequent studies have shown that
ZAP 70 is essential for signaling from the T cell receptor complex
in developing lymphocytes and circulating mature T lympho¬
cytes. This article provides an overview of the role of the ZAP 70
kinase in normal T cells, and discusses the abnormalities that
arise in its absence.
/AK3 deficient Severe Combined Immunodeficiency 97
Luigi D. Notarangelo and Fabio Candotti
Genetic mutations affecting JAK3 expression or function result in
autosomal recessive SCID. Children affected with /AK3 deficient
SCID present with virtual absence of T lymphocytes and NK
cells, whereas B lymphocytes usually are normal or elevated
in number but functionally defective. Because of the profound
impairment of cellular and humoral immunity, patients with JAK3
deficiency are exposed to recurrent and life threatening infections
unless immune reconstitution is achieved by allogeneic bone mar¬
row transplantation. The identification of JAK3 as a key player in
the development of the immune system in humans has stimulated
many studies detailing the biologic characteristics of this im¬
portant molecule, and has opened the way to possible genetic
intervention.
T lymphocyte Immunodeficiencies: Novel Phenotypes 113
Alain Fischer
This article discusses T lymphocyte immunodeficiencies, which
are the most severe forms of primary immunodeficiencies (PID)
CONTENTS Xi
because T cells are central in the induction of antigen specific
immune responses. It is estimated that they represent approxi¬
mately 20% of all types of PID. Many distinct phenotypes of T
cell immunodeficiencies have been reported. Molecular diagnosis
is now possible for many because disease gene identification has
been provided in many cases. It is now possible to connect a
phenotype and a genotype better, which sometimes leads to un¬
derstanding the disease mechanism.
Defects in DNA Rearrangement and Repair
RAG Mutations in Severe Combined Immunodeficiency
and Omenn s Syndrome 129
Klaus Schwarz and Anna Villa
Recombinase activating gene (RAG) proteins play a fundamental
role in lymphoid development. As heterodimeric endonucleases,
they initiate V (D) J recombination, a lymphocyte specific process
that assembles B and T cell antigen receptor genes from subgenic
V, D, and J elements. Recently, the function of the RAG protein
domains has been characterized better. A complete loss of RAG
function causes SCID without B and T cells (BT SCID). Hypo
morphic RAG alleles with residual V (D) J recombination function
result in an immunodeficiency with autoreactive manifestations
(i.e., Omenn s syndrome).
Immunodeficiency Caused by Purine Nucleoside
Phosphorylase Deficiency 143
Amos Cohen, Eyal Grunebaum, Enrico Arpaia, and
Chaim M. Roifman
Purine nucleoside phosphorylase (PNP) is a key enzyme in the
purine salvage and degradation pathway. Patients with PNP de¬
ficiency typically present with recurrent and unusual infections,
autoimmune phenomena, and neurologic abnormalities. The ab¬
normalities in lymphoid and neuronal tissues are believed to
be caused by accumulation of deoxyguanosine. Deoxyguanosine
accumulation in PNP deficiency leads to its phosphorylation to
dGTP, resulting in inhibition of ribonucleotide reductase and
DNA synthesis and repair. Inhibition of DNA repair in PNP
deficient thymocytes results in increased thymic apoptosis and
abnormal T cell development.
Immunodeficiency Caused by Adenosine Deaminase
Deficiency 161
Michael S. Hershfield
Adenosine deaminase (ADA) deficiency occurs in approximately
15% of patients with SCID, and also causes less severe forms
xii contents
of combined immunodeficiency. Immunodeficiency results from
effects of the ADA substrates, adenosine and deoxyadenosine,
and their metabolites. More than 60 ADA gene mutations have
been identified. There is a good correlation between the effects of
mutations on ADA catalytic activity the level of deoxyadenosine
nucleotides in red blood cells, and clinical phenotype. In addition
to bone marrow transplantation, ADA deficiency can be treated
effectively by enzyme replacement with polyethylene glycol
conjugated ADA (PEG ADA). Gene therapy has been used in
combination with PEG ADA, but its efficacy as an independent
modality has not been established.
Ataxia telangiectasia:
A Primary Immunodeficiency Revisited 177
Jose R. Regueiro, Oscar Porras, Martin Lavin, and
Richard A. Gatti
The range of abnormalities seen in ataxia telangiectasia can be
accounted for, at least in part, by the failure of cells to process
inevitable breaks in DNA correctly. ATM acts as a hierarchical
kinase, with numerous potential substrates and downstream con¬
sequences. Possibly because of the stochastic way in which im¬
mune cells mature by gene rearrangements in the TCR and B cell
receptor (BCR) gene complexes, followed by negative selection
(i.e., apoptosis) and then recruitment (i.e., replication) of appro¬
priate cells, it could be anticipated that the immune status from
one patient to the next would be variable—even between siblings
sharing an identical mutation. If gene rearrangements occur in
any other cell lineages, these also would contribute to the com¬
plex phenotype.
Treatment
Hematopoietic Stem Cell Transplantation for Severe
Combined Immunodeficiency Disease 207
Trudy Small
This article discusses unmodified related and unrelated bone mar¬
row transplantation, human leukocyte antigen nonidentical re¬
lated transplants, and umbilical cord blood transplants for SCID.
Gene Therapy for T cell Immunodeficiencies 221
Donald B. Kohn, Kenneth I. Weinberg, and
Robertson Parkman
As the field of human gene therapy has developed over the past
15 years, T cell immunodeficiencies have been a frequent target
of investigation. The first of these was ADA deficiency (i.e., SCID)
CONTENTS xi
because of the availability of the responsible gene. As the genes
responsible for several of the other T cell immunodeficiencies
have been identified and cloned, these deficiencies also have been
investigated in preclinical studies and are now the subject of
clinical trials. This article reviews the work that has been per¬
formed to date and future directions.
Index 237
Subscription Information Inside back cover
Xiv CONTENTS
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| spelling | Primary T-cell immunodeficiencies Chaim M. Roifman, guest ed. Philadelphia [u.a.] Saunders 2000 XIV, 243 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Immunology and allergy clinics of North America 20,1 Déficits immunitaires Lymphocytes T Immunologic Deficiency Syndromes genetics Immunologic Deficiency Syndromes immunology T-Lymphocytes Primärer Immundefekt (DE-588)4210226-1 gnd rswk-swf T-Lymphozyt (DE-588)4127387-4 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Primärer Immundefekt (DE-588)4210226-1 s T-Lymphozyt (DE-588)4127387-4 s DE-604 Roifman, Chaim M. Sonstige oth Immunology and allergy clinics of North America 20,1 (DE-604)BV000645505 20,1 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008901745&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Primary T-cell immunodeficiencies Immunology and allergy clinics of North America Déficits immunitaires Lymphocytes T Immunologic Deficiency Syndromes genetics Immunologic Deficiency Syndromes immunology T-Lymphocytes Primärer Immundefekt (DE-588)4210226-1 gnd T-Lymphozyt (DE-588)4127387-4 gnd |
| subject_GND | (DE-588)4210226-1 (DE-588)4127387-4 (DE-588)4143413-4 |
| title | Primary T-cell immunodeficiencies |
| title_auth | Primary T-cell immunodeficiencies |
| title_exact_search | Primary T-cell immunodeficiencies |
| title_full | Primary T-cell immunodeficiencies Chaim M. Roifman, guest ed. |
| title_fullStr | Primary T-cell immunodeficiencies Chaim M. Roifman, guest ed. |
| title_full_unstemmed | Primary T-cell immunodeficiencies Chaim M. Roifman, guest ed. |
| title_short | Primary T-cell immunodeficiencies |
| title_sort | primary t cell immunodeficiencies |
| topic | Déficits immunitaires Lymphocytes T Immunologic Deficiency Syndromes genetics Immunologic Deficiency Syndromes immunology T-Lymphocytes Primärer Immundefekt (DE-588)4210226-1 gnd T-Lymphozyt (DE-588)4127387-4 gnd |
| topic_facet | Déficits immunitaires Lymphocytes T Immunologic Deficiency Syndromes genetics Immunologic Deficiency Syndromes immunology T-Lymphocytes Primärer Immundefekt T-Lymphozyt Aufsatzsammlung |
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